Varaico: Literature-Extracted Genetic Variants

ROCK1

240 papers

RefSeq Summary

This gene encodes a protein serine/threonine kinase that is activated when bound to the GTP-bound form of Rho. The small GTPase Rho regulates formation of focal adhesions and stress fibers of fibrobla...

Pfam Domains

Pkinaseaa 76–338UCSCProtein kinase domain

Rho_Bindingaa 948–1014UCSCRho Binding

PH_MRCKaa 1118–1223UCSCMRCK kinase PH domain

Gene Aliases

HGNC Name

Rho associated coiled-coil containing protein kinase 1

HGNC Alias Symbol

p160ROCK

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_005406.3

p.R1035*

c.3103C>T

Surrounding Variants

1 paper

NM_005406.3

p.E1031Q

c.3091G>C

1 paper

NM_005406.3

p.L1041L

c.3123C>G

2 papers

NM_005406.3

p.K1054R

c.3161A>G

1 paper

NM_005406.3

p.R1012*

c.3034C>T

1 paper

NM_005406.3

p.E1008A

c.3023A>C

1 paper

NM_005406.3

p.E1008Q

c.3022G>C

1 paper

NM_005406.3

p.K1005fs

c.3013_3014fs

1 paper

NM_005406.3

p.K1005T

c.3014A>C

1 paper

NM_005406.3

p.R1073fs

c.3217_3218fs

1 paper

NM_005406.3

p.R1073_N1074delFs

c.3219_3220delTC

1 paper

NM_005406.3

p.E1084A

c.3251A>C

1 paper

NM_005406.3

p.E1088D

c.3264G>T